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Lysosomal Storage Diseases

Inherited metabolic disorders with substrate accumulation

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Lysosomal Storage Diseases?

Lysosomal storage diseases comprise over 50 inherited disorders, each caused by deficiency of a specific lysosomal enzyme.

Major categories include sphingolipidoses (Gaucher, Fabry, Tay-Sachs), mucopolysaccharidoses, glycoproteinoses, and oligosaccharidoses.

Most are autosomal recessive, except Fabry disease and Hunter syndrome (X-linked).

Substrate accumulation in lysosomes disrupts cellular function, causing progressive damage to multiple organs.

Newborn screening now identifies several LSDs (Pompe, Gaucher, Krabbe, MPS-I, Fabry) before symptoms develop.

Treatment options include enzyme replacement therapy (ERT), substrate reduction therapy, hematopoietic stem cell transplantation, and emerging gene therapies.

Symptoms

Hepatosplenomegaly, coarse facial features
Skeletal dysplasia, joint stiffness
Developmental regression or delay
Hearing or vision loss, corneal clouding
Cardiac involvement (cardiomyopathy, valvular disease)
Recurrent infections, growth failure
Variable age of onset depending on enzyme residual activity

Risk Factors

Consanguineous parental relationships
Family history of LSD or unexplained pediatric death
Specific ethnic groups for certain LSDs (Ashkenazi Jewish for Gaucher and Tay-Sachs)
Carrier status in family members
Older paternal age in some X-linked LSDs
Failure to meet developmental milestones

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Unexplained hepatosplenomegaly, developmental regression, or coarse features warrant metabolic evaluation.
  • Family history of LSD requires genetic counseling for prospective parents.
  • Newborn screen positivity should prompt immediate referral to a metabolic specialist.
  • Older siblings of affected children should be tested even if asymptomatic.
  • New-onset cardiac, renal, or neurological symptoms in known LSD patients require urgent reassessment.

Treatment Methods

01
Enzyme replacement therapy (ERT) for Gaucher, Fabry, Pompe, MPS-I, II, IVA, VI, VII.
02
Substrate reduction therapy (miglustat, eliglustat) for Gaucher and Niemann-Pick C.
03
Hematopoietic stem cell transplantation for severe MPS-I (Hurler) and X-ALD if pre-symptomatic.
04
Pharmacological chaperone therapy (migalastat) for amenable Fabry mutations.
05
Gene therapy in clinical trials for several LSDs.
06
Multidisciplinary care: metabolic specialist, cardiology, nephrology, ophthalmology, orthopedics, neurology.
07
Symptomatic management: bone pain, seizure control, ventilatory support.
08
Genetic counseling and prenatal diagnosis for at-risk families.

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.